ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.7488T>G (p.Asn2496Lys) (rs201977551)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253231 SCV000318608 likely benign Cardiovascular phenotype 2016-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171723 SCV000050629 likely benign not provided 2013-06-24 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000204515 SCV000470296 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309341 SCV000470297 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204515 SCV000260601 uncertain significance Long QT syndrome 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 2496 of the AKAP9 protein (p.Asn2496Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs201977551, 0.05%) and has been reported in the literature in one healthy control individual (PMID: 23861362) but not in any affected individuals. ClinVar contains an entry for this variant (Variation ID: 191521). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000171723 SCV000925034 uncertain significance not provided 2015-11-17 no assertion criteria provided provider interpretation

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